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| Hereditary neuropathy v1.80 | DYNC1H1 | Louise Daugherty commented on gene: DYNC1H1: Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy v1.72 | DYNC1H1 | Louise Daugherty Phenotypes for gene: DYNC1H1 were changed from Charcot Marie Tooth disease, axonal, type 20, 614228; Mental retardation, autosomal dominant 13, 614563; Spinal muscular atrophy, lower extremity predominant, AD, 158600 to Charcot Marie Tooth disease, axonal, type 20, 614228; Mental retardation, autosomal dominant 13, 614563; Spinal muscular atrophy, lower extremity predominant, AD, 158600 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy v1.71 | DYNC1H1 | Louise Daugherty Phenotypes for gene: DYNC1H1 were changed from Charcot Marie Tooth disease, axonal, type 20, 614228; Mental retardation, autosomal dominant 13, 614563; Spinal muscular atrophy, lower extremity predominant, AD, 158600; Mental retardation, autosomal dominant 13, 614563; Spinal muscular atrophy, lower extremity predominant, AD, 158600; others to Charcot Marie Tooth disease, axonal, type 20, 614228; Mental retardation, autosomal dominant 13, 614563; Spinal muscular atrophy, lower extremity predominant, AD, 158600 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy v1.63 | DYNC1H1 | Louise Daugherty commented on gene: DYNC1H1: Review and rating submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy v1.60 | DYNC1H1 |
Louise Daugherty Added phenotypes Spinal muscular atrophy, lower extremity predominant, AD, 158600; Charcot Marie Tooth disease, axonal, type 20, 614228; Mental retardation, autosomal dominant 13, 614563 for gene: DYNC1H1 Publications for gene DYNC1H1 were changed from PMID: 21820100; PMID: 26392352 to 21820100; 26392352 |
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| Hereditary neuropathy v1.58 | DYNC1H1 | Natalie Forrester reviewed gene: DYNC1H1: Rating: GREEN; Mode of pathogenicity: ; Publications: 21820100, 26392352; Phenotypes: Charcot Marie Tooth disease, axonal, type 20, 614228, Mental retardation, autosomal dominant 13, 614563, Spinal muscular atrophy, lower extremity predominant, AD, 158600; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy v1.56 | DYNC1H1 | Louise Daugherty Source South West GLH was added to DYNC1H1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy v1.55 | DYNC1H1 | Louise Daugherty reviewed gene: DYNC1H1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy v1.52 | DYNC1H1 | James Polke reviewed gene: DYNC1H1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy v1.51 | DYNC1H1 | Louise Daugherty Source NHS GMS was added to DYNC1H1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy v1.50 | DYNC1H1 |
Louise Daugherty Source London North GLH was added to DYNC1H1. Rating Changed from Green List (high evidence) to Green List (high evidence) |
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